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62. Ultrastructural aspects of chondrodystrophia calcificans congenita (syndrome of Conradi-Hünermann). Bosman C; Bonucci E; Gugliantini P; Saguì L Virchows Arch A Pathol Anat Histol; 1977 Feb; 373(1):23-35. PubMed ID: 139022 [TBL] [Abstract][Full Text] [Related]
63. The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome. Traupe H; Has C Eur J Dermatol; 2000 Aug; 10(6):425-8. PubMed ID: 10980461 [TBL] [Abstract][Full Text] [Related]
64. Conradi-Hunermann syndrome: a case report. Louvar RD; Block WM; Martin LR Clin Pediatr (Phila); 1974 Aug; 13(8):680-5. PubMed ID: 4448037 [No Abstract] [Full Text] [Related]
65. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature. Rakheja D; Read CP; Hull D; Boriack RL; Timmons CF Pediatr Dev Pathol; 2007; 10(2):142-8. PubMed ID: 17378690 [TBL] [Abstract][Full Text] [Related]
66. Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome). Pryde PG; Bawle E; Brandt F; Romero R; Treadwell MC; Evans MI Am J Med Genet; 1993 Sep; 47(3):426-31. PubMed ID: 8135294 [TBL] [Abstract][Full Text] [Related]
67. [Chondrodysplasia punctata. Conradi-Hünermann disease. Apropos a new case]. Gil Rivas MT; Aparicio Lozano P; Alonso Alvarez B; Sastre Huerta E; Sánchez Martín J; Merino Arribas JM An Esp Pediatr; 1996 May; 44(5):509-11. PubMed ID: 8928977 [No Abstract] [Full Text] [Related]
69. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. Emami S; Rizzo WB; Hanley KP; Taylor JM; Goldyne ME; Williams ML Arch Dermatol; 1992 Sep; 128(9):1213-22. PubMed ID: 1519936 [TBL] [Abstract][Full Text] [Related]
70. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Milunsky JM; Maher TA; Metzenberg AB Am J Med Genet A; 2003 Jan; 116A(3):249-54. PubMed ID: 12503101 [TBL] [Abstract][Full Text] [Related]
78. Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? Borochowitz Z Am J Med Genet; 1991 Dec; 41(4):417-22. PubMed ID: 1776629 [TBL] [Abstract][Full Text] [Related]
79. Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis. Ozyurt K; Subasioglu A; Ozturk P; Inci R; Ozkan F; Bueno E; Cañueto J; González Sarmiento R Indian J Dermatol; 2015; 60(2):216. PubMed ID: 25814754 [TBL] [Abstract][Full Text] [Related]
80. The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome. Pazzaglia UE; Zarattini G; Donzelli C; Benetti A; Bondioni MP; Groli C Fetal Pediatr Pathol; 2008; 27(2):71-81. PubMed ID: 18568995 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]